A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244786



Internal ID21303613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73648672..73701759hg38UCSC Ensembl
Outerchr2:73642023..73706400hg38UCSC Ensembl
Innerchr2:73875799..73928886hg19UCSC Ensembl
Outerchr2:73869150..73933527hg19UCSC Ensembl
Innerchr2:73729307..73782394hg18UCSC Ensembl
Outerchr2:73722658..73787035hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3864378
hg1964378
hg1864378
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169568
Supporting Variants
SamplesMLY_8
Known GenesALMS1P, NAT8, NAT8B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244786
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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